Friedreich's ataxia Flashcards
1
Q
Genetic component
A
trinucleotide repeat
- GAA repeat in the X25 gene on chromosome 9 (frataxin)
2
Q
Inheritance pattern
A
autosomal recessive
3
Q
Typical age of onset of Friedreich’s ataxia
A
10-15 years old
4
Q
Most common presenting features
A
Gait ataxia
kyphoscoliosis
5
Q
Neurological features
A
absent ankle jerks/extensor plantars
cerebellar ataxia
optic atrophy
spinocerebellar tract degeneration
6
Q
Other features of disease
A
hypertrophic obstructive cardiomyopathy (90%, most common cause of death)
diabetes mellitus (10-20%)
high-arched palate
7
Q
A
